Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Extreme Y chromosome polymorphism corresponds to five male reproductive morphs

The paper examines Y chromosome diversity in Poecilia parae, revealing five distinct Y haplotypes associated with different male reproductive morphs despite recombination suppression.

Inherited Human Sex Reversal due to Loss of a Water-Mediated Hydrogen Bond at a Conserved Protein-DNA Interface

The paper investigates inherited and de novo mutations in SRY causing sex reversal, showing that Y127F preserves transcriptional activity while Y127C leads to proteasomal degradation.

Genetic, Genomic and Biophysical Case Study: Familial 46, XY Sex Reversal due to a Novel Inherited Mutation in Human Testis-Determining Factor SRY

The paper describes a novel SRY mutation causing 46, XY sex reversal, showing its partial function and phenotypic effects in a family.

Impact of trait exaggeration on sex-biased gene expression and genome architecture in a water strider

The paper examines how sexual selection influences sex-biased gene expression and genome architecture in water striders by analyzing genome and transcriptome data from males with exaggerated traits.

Two transcriptionally distinct pathways drive female development in a reptile with both genetic and temperature dependent sex determination

The paper compares gene expression in genetically and temperature-induced female development in bearded dragons to identify distinct transcriptional pathways involved in sex determination.

Detecting sex-linked genes using genotyped individuals sampled in natural populations

The paper introduces SDpop, a method to detect sex-linked genes in natural populations using genotyped individuals, showing robust predictions with 5-10 individuals per sex.

Single cell transcriptomics reveal temporal dynamics of critical regulators of germ cell fate during mouse sex determination

The paper uses single-cell RNA sequencing to study gene expression dynamics in mouse germ cells during sex determination, identifying sex-specific regulatory patterns and meiotic gene regulation.

Bayesian modeling of skewed X inactivation ingenetically diverse mice identifies a novel Xce allele associated with copy number changes

The paper uses Bayesian modeling to analyze XCI skew in genetically diverse mice, identifying a novel Xce allele linked to copy number changes.

Widespread misregulation of inter-species hybrid transcriptomes due to sex-specific and sex-chromosome regulatory evolution

The paper examines sex-specific regulatory divergence in hybrid transcriptomes of Caenorhabditis nematodes, finding widespread misexpression of sex-biased genes, especially on the X-chromosome, leading to male-specific hybrid dysfunction.

Primary sex determination in chickens depends on DMRT1 dosage, but gonadal sex does not determine secondary sexual characteristics in adult birds

Non-canonical function of the Sex-lethal gene controls the protogyny phenotype in Drosophila melanogaster

This study identifies a non-canonical function of the Sxl gene in controlling the protogyny phenotype in Drosophila melanogaster using a novel monitoring system.

RADSex: a computational workflow to study sex determination using Restriction Site-Associated DNA Sequencing data

RADSex is a computational workflow for analyzing RAD-Seq data to identify sex determination systems, uncovering new sex-specific markers in fish species.

Cross-species examination of X-chromosome inactivation highlights domains of escape from silencing

The paper examines X-chromosome inactivation across 12 species, finding mouse as an outlier with fewer escape genes and highlighting domain-level control and gene-based influences on inactivation.

Dynamic Sex Chromosome Expression in Drosophila Male Germ Cells

The paper shows that X and 4th chromosomes are inactivated while Y chromosomes are active in Drosophila primary spermatocytes using single-cell RNA-Seq.

Dosage-sensitive functions in embryonic development drove the survival of genes on sex-specific chromosomes in snakes, birds, and mammals

The paper identifies dosage-sensitive developmental genes as key to survival on sex-specific chromosomes across snakes, birds, and mammals, showing broad expression and dosage sensitivity contribute independently to gene retention.

Knockout of myoc reveals the role of myocilin in zebrafish sex determination associated with Wnt signalling downregulation

This study generates a myocilin knockout zebrafish line and shows its role in sex determination by disrupting Wnt signaling, leading to male development and absence of females.

Sex determination through X-Y heterogamety in Salix nigra

This study identifies a novel sex-linked region in Salix nigra, demonstrating XY heterogamety and recombination suppression, with implications for understanding sex chromosome evolution in plants.

trans-homolog interaction regulates the sex-biased expression of an X-linked gene

The paper shows that trans-homolog interactions between X-linked alleles regulate sex-biased expression of the yellow gene in Drosophila.

Polycomb suppresses a female gene regulatory network to ensure testicular differentiation

The paper identifies Polycomb's role in suppressing a female gene regulatory network in Sertoli cells to maintain testicular differentiation.

Germline Sex Determination regulates sex-specific signaling between germline stem cells and their niche

The paper investigates how germline sex determination regulates signaling between germline stem cells and their niche, showing JAK/STAT signaling promotes male identity while Sex lethal blocks it in XX cells.

The knockout of the HMG domain of the porcine SRY gene causes sex reversal in gene-edited pigs

This study shows that knocking out the HMG domain of the porcine SRY gene causes sex reversal in pigs, leading to female genitalia in genetically male pigs.

Genetic factors contributing to extensive variability of sex-specific hepatic gene expression in Diversity Outbred mice

This study identifies autosomal genetic factors that interact with growth hormone to regulate sex-specific gene expression in mouse liver, revealing over 200 instances of sex-specificity changes across strains.

Heterochiasmy facilitated the establishment of gsdf as a novel sex determining gene in Atlantic halibut

The paper identifies gsdf as a novel sex determining gene in Atlantic halibut by analyzing genome structure and recombination patterns.

The female (XX) and male (YY) genomes provide insights into the sex determination mechanism in spinach

The paper assembles and analyzes the genomes of female and male spinach to study sex determination mechanisms, identifying key features of the sex chromosomes.

MADloy: Robust detection of mosaic loss of chromosome Y from genotype-array-intensity data

MADloy improves mLOY detection using genotype-array-intensity data, showing better accuracy and statistical power in disease association studies.

Evolutionary stasis of the pseudoautosomal boundary in strepsirrhine primates

The paper studies the pseudoautosomal boundary (PAB) evolution in strepsirrhine primates and finds it has remained stable, unlike in haplorrhines where PAB shifts occurred due to recombination suppression.

The direct regulation of Aalbdsx on AalVgR is Indispensable for ovarian development in Aedes albopictus

This study identifies Aalbdsx as critical for ovarian development in Aedes albopictus by regulating the vitellogenin receptor (VgR) gene.

Meiosis reveals the early steps in the evolution of a neo-XY sex chromosome pair in the African pygmy mouse Mus minutoides

This paper studies meiosis in the African pygmy mouse to reveal early steps in neo-XY sex chromosome differentiation, showing delayed synapsis, suppressed recombination, and unique metaphase-I associations in the neo-PAR.

N-Terminus of Drosophila Melanogaster MSL1 Is Critical for Dosage Compensation

This study shows that the N-terminal region of MSL1 is essential for MSL complex stability and function in dosage compensation in Drosophila males.

Genetic determinism of spontaneous masculinisation in XX female rainbow trout: new insights using medium throughput genotyping and whole-genome sequencing

The paper investigates the genetic basis of spontaneous masculinization in XX female rainbow trout using GWAS and WGS, identifying candidate genes associated with maleness.